Rare Bone Disorder Found in Adult: Why Early Detection Matters
Doctors discovered a rare condition called pseudohypoparathyroidism type 1B (PHP1B) in a 33-year-old man who had low calcium levels and tingling in his hands. …
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All content tagged with "genetic testing"
A Hidden Cause of Dangerously High Fat in Young Adults
Doctors often see young people with extremely high levels of fat (triglycerides) in their blood and assume it's from diet or lifestyle. But this case report …
Read MoreA Gene Variant That May Increase Diabetes Risk
Researchers studied nearly 1,000 Iranian adults to understand how tiny differences in a gene called VDR (vitamin D receptor) might affect diabetes risk. They …
Read MoreRare Brain Disorder Found in Boy With Hard-to-Treat Seizures
Doctors in Indonesia discovered a very rare genetic condition in an 11-year-old boy that was causing severe seizures that didn't respond to normal treatments. …
Read MoreRare Pregnancy Condition Linked to Genetic Syndrome
A 27-year-old woman discovered she had a rare genetic condition called DiGeorge syndrome when doctors found she had dangerously low calcium levels during her …
Read MoreWhy Some Kids Can't Digest Sugar: A Hidden Digestive Problem
Researchers discovered that some children have trouble digesting certain sugars because of a genetic issue affecting their intestines. When doctors tested kids …
Read MoreA Rare Gene Problem That Mimics Multiple Sclerosis
Doctors usually think that nerve and spinal cord problems in young adults are caused by the immune system attacking the brain. But this case shows something …
Read MoreRare Gene Mutation Disguised as Diabetes: A Family's Story
Doctors thought a patient had type 2 diabetes, but genetic testing revealed something completely different: a rare inherited condition affecting multiple …
Read MoreScientists Find New Genetic Cause of Rickets Disease
Researchers have discovered a completely new way that rickets—a bone disease that weakens children's bones—can develop. Instead of just lacking vitamin D, some …
Read MoreRare Gene Mutation Causes Severe Vitamin Absorption Problem in Young Woman
Doctors discovered why a young woman had struggled with severe vitamin deficiencies since infancy. Using genetic testing at age 18, they found she had a rare …
Read MoreYour Genes May Affect How Your Body Uses Vitamin B12
Scientists discovered that your genes play a big role in how well your body absorbs and uses vitamin B12, even when you eat enough of it. Researchers studied …
Read MoreWhy Your Genes Affect How Your Body Uses Vitamin D
Scientists discovered that your genes play a bigger role in vitamin D processing than doctors previously thought. Using seven different mouse strains, …
Read MoreUnderstanding How Vitamin D and Genes Work Together in Diabetes
Scientists are working to better understand how vitamin D interacts with our genes, particularly a gene called Omentin-1, which may affect weight and blood …
Read MoreYour Genes May Affect Psoriatic Arthritis Pain and Symptoms
Researchers studied 68 people with psoriatic arthritis—a condition that causes joint pain and skin problems—to see if certain genetic variations affect how …
Read MoreNew Ways Doctors Are Personalizing Crohn's Disease Treatment
Crohn's disease is a long-term condition that causes inflammation in the digestive system, and it affects people differently. Scientists are now using advanced …
Read MoreHow Your Body Controls Vitamin D: A Key Protein That Keeps Levels in Balance
Scientists have discovered that a protein called CYP24A1 acts like an "off switch" for vitamin D in your body. This protein breaks down active vitamin D into …
Read MoreA Gene Linked to Autism Severity: What You Need to Know
Researchers studied 78 people with autism to understand if a specific gene called MTHFR affects how severe their autism symptoms are. MTHFR helps your body …
Read MoreUnderstanding Rare Bone Diseases: What Doctors Found in India
Researchers in India studied 218 people with rare bone diseases that affect how bones grow and stay strong. These diseases are uncommon, affecting fewer than 5 …
Read MoreRare Genetic Disorder Found: New Mutation Discovered in Young Woman
Doctors discovered a new genetic mutation in a 19-year-old girl that causes a rare condition called Fanconi-Bickel syndrome. This condition affects how the …
Read MoreWhy Some HIV Patients Get Tuberculosis: A Genetic Discovery
Researchers studied 60 people to understand why some people with HIV develop tuberculosis while others don't. They found that certain genetic differences in …
Read MoreRare Gene Changes Linked to Severe Seizures in Babies
Researchers studied 18 babies with a serious seizure condition called infantile epileptic spasms syndrome caused by changes in mitochondrial genes—the parts of …
Read MoreWhy Some Newborns Have Seizures: Understanding Genetic Causes
Seizures in newborns can have many causes, but doctors are learning that some are caused by genetic conditions rather than brain injuries. This review explains …
Read MoreNew Test Helps Doctors Find a Rare Blood Cell Disease
Doctors have created a new scoring system called the FIP-Score to help identify patients who might have a rare condition called FIP1L1-PDGFRA-associated …
Read MoreRare Gene Mutation Causes Low Magnesium and Calcium in Infants
Doctors discovered a new genetic mutation that prevents babies from absorbing enough magnesium and calcium from food, which can cause dangerous seizures. A …
Read MoreTeen's Mystery Cholesterol Problem Finally Solved With Genetic Test
A teenager spent 13 years struggling with dangerously high cholesterol that wouldn't improve with normal treatments. Doctors initially thought she had a common …
Read MoreA Gene Variant May Increase Thyroid Risk in Women With PCOS
Researchers studied a small group of women with PCOS (a common hormonal condition) to understand why some develop thyroid problems. They looked at a specific …
Read MoreYour Genes May Change How Diet Helps Your Kidneys
Scientists are discovering that the same diet doesn't work the same way for everyone with kidney disease. Your genes—the instructions that make you who you …
Read MoreYour Genes May Affect Vitamin D and MS Risk
Scientists in Jordan studied how genes that control vitamin D in your body might be connected to multiple sclerosis (MS), a disease that affects the nervous …
Read MoreCustom Nutrition Plans Based on Your Body's Chemistry
Scientists are discovering that one-size-fits-all diet advice doesn't work for everyone. A new review in Clinical Chemistry explores how personalized …
Read MoreYour Genes and Autoimmune Disease: What a Key Enzyme Reveals
Scientists have discovered that a gene called MTHFR, which controls how your body processes folate (a B vitamin), may play a role in autoimmune diseases like …
Read MoreA Rare Type of Childhood Diabetes Found in Russian Kids
Researchers studied 15 children in Russia who have a rare genetic form of diabetes called HNF4A-MODY. This type of diabetes runs in families and is caused by a …
Read MoreRare Baby Bone Disease: How Doctors Solved a Medical Mystery
Hypophosphatasia is an extremely rare genetic condition that affects how a baby's body builds bones. In this case study, doctors describe a newborn with …
Read MoreHow a Rare Gene Mutation Caused Seizures in a Girl—and How Doctors Fixed It
A 10-year-old girl developed serious seizures that wouldn't stop, even with multiple medications. Doctors discovered she had a rare genetic condition where her …
Read MoreWhy a 5-Year-Old Boy's Cystic Fibrosis Was Missed at Birth
Cystic fibrosis is a serious genetic disease that usually gets caught through newborn screening tests. But this case shows it can sometimes be missed. A …
Read MoreYour Genes May Explain Why You're Low on Vitamin D
Researchers in Pakistan studied 600 people to understand why some folks don't have enough vitamin D in their bodies. They discovered that certain genetic …
Read MoreWhen a Child's Body Can't Control Fat: A Rare Genetic Case
This story follows a young boy who inherited a rare genetic condition that makes his body unable to control fat levels in his blood. Even though he ate a …
Read MoreGood Bacteria Gone Bad: When Probiotics End Up in Your Blood
Scientists studied seven strains of a popular probiotic bacteria called L. rhamnosus that were found in people's bloodstreams. Using advanced DNA sequencing …
Read MoreYour Genes May Affect How Well Antipsychotic Medicine Works
Researchers in Greece studied 163 people with schizophrenia to understand why some patients respond better to antipsychotic medications than others. They …
Read MoreNew Genetic Clues Found in Rare B12 Metabolism Disorder
Researchers studied 29 patients with a rare genetic condition called cblG that affects how their bodies use vitamin B12. By analyzing their genes, scientists …
Read MoreRare Infection Linked to Low Vitamin D and Mouth Sores
Doctors discovered a rare bloodstream infection caused by a bacteria normally found on skin in a healthy 50-year-old woman. The infection was unusual because …
Read MoreNew Technology Could Help Doctors Create Custom Diets Just for You
Scientists are developing new computer tools that can combine different types of biological information about your body—like your genes, proteins, and gut …
Read MoreWhy Some People Get Two Rare Blood and Lung Diseases Together
Doctors discovered that two rare diseases—one affecting blood cells and one affecting the lungs—might be connected through shared genetic problems rather than …
Read MoreHow Your Genes Might Affect Magnesium and Gut Health
Researchers investigated whether a person's genetic makeup influences how magnesium supplements affect the bacteria living in their gut. The study looked at …
Read MoreRare Gene Mutation Found in Newborn With Dangerously High Fat Levels
Doctors discovered a brand-new genetic mutation in a newborn baby that caused extremely high levels of fat in the blood—a condition so rare that this specific …
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